Are oestrogens and genetic predisposition etiologic factors in the development of clear cell carcinoma of the peritoneum?

Our plain-English summary of Are oestrogens and genetic predisposition etiologic factors in the development of clear cell carcinoma of the peritoneum?, by R. Wuntakal, A. Lawrence (Medical Hypotheses, 2013).

The study

• Authors: R. Wuntakal, A. Lawrence
• Journal: Medical Hypotheses
• Published: 2013;80(2):167-71
• Cited by: 6 articles, as counted by NIH iCite
• Read it: PubMed · Publisher

Abstract

A literature search was carried out for clinical observations that could explain the possible aetiology of primary peritoneal clear cell carcinoma (CCC) including diagnostic dilemmas, various theories of origin, oestrogen dependence and genetic association. It was found to be an extremely rare tumour (CCC) arising in the peritoneum and is often misdiagnosed as mesothelioma or serous carcinoma or metastatic adenocarcinoma due to overlapping morphological features. The awareness of such dilemmas is important even before making a diagnosis. Clinicopathological features and immunohistochemical studies like WT1, CK20 and calretinin are usually helpful in differentiating CCC from serous carcinoma, metastatic carcinoma from bowel and mesothelioma. (CK7 is common to all epithelial tumours, CEA can be expressed in clear cell carcinoma, WT1 is normally expressed in serous carcinoma, calretinin is expressed in mesothelioma and CK20 in colon carcinoma). The distinction between the above tumours is important as correct diagnosis is required in initiating appropriate treatment. Less than ten cases have been reported in the English language medical literature. Mullerian metaplasia and malignant transformation in endometriosis are two theories proposed for its existence. Peritoneal CCC can be oestrogen dependent in view of association with oestrogen dependent conditions which include endometriosis, adenomyosis and endometrial carcinoma. A genetic ascertain is difficult to be associated and needs further evaluation in a research setting in the familial cancer genetic clinics.

Copyright © 2012 Elsevier Ltd. All rights reserved.

In plain English

This was a hypothesis paper, not a new study of patients. The authors searched the medical literature on primary clear cell carcinoma (CCC) of the peritoneum, a very rare cancer of the abdominal lining. They found fewer than ten cases reported in English and tabulated eight. They noted this cancer can be hard to tell apart from peritoneal mesothelioma. Citing other sources, they wrote that a negative calretinin stain normally helps exclude peritoneal mesothelioma. Six of the eight cases had conditions the authors regard as oestrogen dependent, such as endometriosis, adenomyosis and endometrial cancer. Oestrogen receptors were positive in one case, negative in one and not tested in six. None of the cases had a past history of familial cancers. The authors concluded that peritoneal CCC may be oestrogen dependent and felt genes may not play a role, but said genetic influence should be explored further. They noted it is hard to tell whether the cancer is truly rare or under-reported. The article did not study asbestos and mentions it only once, in a cited remark about peritoneal mesothelioma.

We wrote this plain-English summary from the full article with the help of AI, and a second AI model checked each sentence against the article. It is not the authors' wording; the abstract and the article are their own account.

What the study did and found

• Design: Hypothesis paper based on a literature review of published case reports
• Who was studied: Published case reports of primary peritoneal clear cell carcinoma in women: fewer than ten in the English-language literature, eight tabulated (reports from 1990 to 2011)
• Exposure: The factors examined were oestrogen and genetic predisposition. No asbestos exposure was studied. Asbestos appears only once, where the authors, citing another source, describe peritoneal mesothelioma as occurring in elderly or middle-aged women with 83% expressing a history of asbestos exposure.
• Main results:
  • Six of the eight published cases were associated with conditions the authors describe as oestrogen dependent (endometriosis, adenomyosis, endometrial carcinoma)
  • Of the eight cases, oestrogen receptor was positive in one, not tested in six, and negative in one
  • None of the eight published cases had a past history of familial cancers
  • The authors felt genes may not play a role in this rare condition
  • The tumours arose as cystic-solid masses, unlike serous tumours, which spread more diffusely
  • In discussing how to tell these tumours apart, the authors stated, citing other sources, that a negative calretinin stain normally helps exclude peritoneal mesothelioma
• The authors' conclusion: The authors concluded that, on the available evidence and theories, peritoneal clear cell carcinoma may be oestrogen dependent
• Limitations the authors state:
  • Because of diagnostic difficulties, it is unclear whether the tumour is truly rare or under-reported
  • WT1 staining information was not available for all eight published cases
  • The authors said the role of genetic influence still needs to be explored in familial cancer screening

Topics

Medical terms in this study, explained in our Lexicon: Carcinoma, Peritoneum, Mesothelioma, Adenocarcinoma, Calretinin, Malignant Transformation.

Related studies

• Hepatocyte nuclear factor-1β is not a specific marker of clear cell carcinoma in serous effusions — B. Davidson (2014)
• Primary peritoneal clear cell carcinoma versus ovarian carcinoma versus malignant transformation of endometriosis: a vexing issue — L. Insabato, V. Natella, et al. (2015)
• Cytomorphology of ovarian clear cell carcinomas in peritoneal effusions — D. Damiani, V. Suciu, et al. (2016)
• Clear cell colorectal carcinoma: Time to clarify diagnosis — A. Remo, F. Grillo, et al. (2017)
• A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma — K.A. Wadt, L.G. Aoude, et al. (2015)
• Genetic predisposition for malignant mesothelioma: A concise review — M. Betti, A. Aspesi, et al. (2019)

Browse more research in Medical Hypotheses, or return to medical research.